Male-female ring finger proportions tied to sex hormones in embryo; may offer health insights
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Biologists at the University of Florida have found a reason why men’s ring fingers are generally longer than their index fingers — and why the reverse usually holds true for women.
The finding could help medical professionals understand the origin of behavior and disease, which may be useful for customizing treatments or assessing risks in context with specific medical conditions.
Writing this week in the Proceedings of the National Academy of Sciences, developmental biologists Martin Cohn, Ph.D., and Zhengui Zheng, Ph.D., of the Howard Hughes Medical Institute and the department of molecular genetics and microbiology at the UF College of Medicine, show that male and female digit proportions are determined by the balance of sex hormones during early embryonic development. Differences in how these hormones activate receptors in males and females affect the growth of specific digits.
The discovery provides a genetic explanation for a raft of studies that link finger proportions with traits ranging from sperm counts, aggression, musical ability, sexual orientation and sports prowess, to health problems such as autism, depression, heart attack and breast cancer.
Gene defect that predisposes people to leukemia discovered
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A new genetic defect that predisposes people to acute myeloid leukemia and myelodysplasia has been discovered. The mutations were found in the GATA2 gene. Among its several regulatory roles, the gene acts as a master control during the transition of primitive blood-forming cells into white blood cells.
The researchers started by studying four unrelated families who, over generations, have had several relatives with acute myeloid leukemia, a type of blood cancer. Their disease onset occurred from the teens to the early 40s. The course was rapid.
The findings will be reported Sept. 4 in Nature Genetics. The results come from an international collaboration of scientists and the participation of families from Australia, Canada, and the United States.
Potential vaccine readies immune system to kill tuberculosis in mice
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A potential vaccine against tuberculosis has been found to completely eliminate tuberculosis bacteria from infected tissues in some mice. The vaccine was created with a strain of bacteria that, due to the absence of a few genes, are unable to avoid its host’s first-line immune response. Once this first-line defense has been activated, it triggers the more specific immune response that can protect against future infections.
The research, by scientists at the Howard Hughes Medical Institute, Albert Einstein College of Medicine and Colorado State University, appears in the September 4, 2011, issue of Nature Medicine.
Tuberculosis, an infectious disease caused by Mycobacterium tuberculosis, is a global health concern, accounting for 2-3 million deaths annually. One third of the world’s population is infected with the bacterium, and according to the World Health Organization, new infections occur at a rate of about one per second. Most people who are infected don’t get sick, because the immune system keeps the bacteria under control. However, people whose immune systems are weakened, such as those with HIV/AIDS, are highly susceptible to the active form of the infection. With staggering rates of HIV infection in some parts of the world, such as Africa, co-infection with TB is a serious problem. To make matters worse, some strains of M. tuberculosis have become resistant to every drug currently used to treat tuberculosis.
“We’re back to where we were before there were drugs for TB,” says William R. Jacobs, Jr., an HHMI investigator at Albert Einstein College of Medicine.
To treat rare disease, NIH scientists repurpose FDA-approved drug
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WHAT: A new study reports that a drug already approved by the Food and Drug Administration for use in patients undergoing a bone marrow transplant may also have promise for treating people who have a rare immune deficiency known as WHIM syndrome. People with the syndrome are more susceptible to potentially life-threatening bacterial and viral infections, particularly human papillomavirus infections, which cause skin and genital warts and can lead to cancer. The study was conducted by investigators at the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health (NIH).
Boys and girls are equally at risk of inheriting the genetic mutation that causes WHIM syndrome, and the disorder frequently affects multiple family members. Approximately 60 patients worldwide have been diagnosed with WHIM syndrome, 10 of whom are currently receiving care at NIH.
As a result of the inherited genetic mutation, the function of a molecule, called CXC chemokine receptor 4 (CXCR4), increases. This in turn inhibits migration of neutrophils and other types of white blood cells from the bone marrow into the bloodstream. With fewer circulating immune cells, those with the disorder are less able to fight off infections.
College Athlete Died of Head Trauma, Father Says
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A 22-year-old football player for Frostburg State University in Maryland has died from head trauma sustained on the field, his father said.
Nearly a week after passing out during a routine practice, fullback Derek Sheely died late Sunday at the University of Maryland R Adams Cowley Shock Trauma Center in Baltimore.
Kenneth Sheely, Derek’s father, said in a telephone interview from the family’s home in Germantown, Md., that he was told by doctors that Derek had sustained “severe head trauma.”
F.T.C. Criticizes Agreements That Delay Generic Drugs
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Some drug makers are using an indirect method to delay competition from low-cost generic products by promising not to introduce their own generic versions if a potential competitor delays its entry into the market, the Federal Trade Commission said in a report on Wednesday.
Until lately, the so-called pay-for-delay cases have focused mostly on cash payments by drug companies to settle patent litigation with generic competitors in return for concessions on when to enter the market. These new agreements add a twist to the patent settlements.
The industry contends they are legal business decisions.
Laughter And Chocolate Can Boost Heart Health
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Maybe laughter really is the best medicine—especially if it’s taken with a dose of chocolate.
Two practically-too-good-to-be-true studies presented at the European Society of Cardiology’s conference in Paris have found that chocolate and laughter are both good for the heart.
While previous studies have found that stress can cause blood vessels to constrict, the first team of researchers, from the University of Maryland School of Medicine in Baltimore, wanted to find out if positive emotions had the opposite effect, lead researcher Dr. Michael Miller said in a release.
When they aired the opening clip of the drama “Saving Private Ryan,” volunteers responded with a constriction of the blood vessel linings, causing a reduction in blood flow. But when those same people watched clips of the comedy, “There’s Something About Mary,” the linings actually expanded.
Gender differences in clinical presentation and outcome of transcatheter aortic valve implantation
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Severe aortic stenosis (AS) is increasing in frequency as the population ages. For a subset of patients in whom surgical conventional aortic valve replacement is excluded due to severe co-morbidities, an alternative to surgical aortic valve replacement – transcatheter aortic valve replacement (TAVI)- has emerged with a first-in-man case performed in France in 2002 by Pr. Alain Cribier. Since 2002, TAVI has undergone many modifications from first generation devices, and the technique is now performed routinely in selected centres to treat patients with symptomatic severe aortic stenosis who are ineligible or at high-risk for conventional surgical aortic valve replacement. Two transcatheter heart valves, the “Edwards Sapien valve” and the Medtronic Corevalve” are available in Europe. More than 30,000 procedures have been performed worldwide in the last decade.
Although gender differences in cardiovascular disease (CVD) have been explored for a long time, only a limited number of studies have been conducted to clarify differences between male and female patients with aortic stenosis (AS), in terms of clinical presentation and outcome, after surgical aortic valve replacement (AVR). Certain studies have shown an increased short-term mortality rate among women and the female gender has been identified as one of the predictors of peri-operative mortality after cardiac surgery by EuroSCORE.
The Institut Cardiovasculaire Paris-Sud (ICPS) started a TAVI program in September 2006. In order to address the issue of gender differences in clinical presentation and outcome of TAVI for severe aortic stenosis, clinical characteristics and outcome of 131 women and 129 men treated in ICPS from 2006 to december 2010, were compared. Data were collected prospectively and entered in a dedicated database.
A question of gene silencing
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When investigating cancer cells, researchers discovered numerous peculiarities: Particular RNA molecules are present in large numbers, particular genes are overactive. Do these characteristics have a relation to cancer? Do they promote cell growth? Do they inactivate growth brakes or are they just a whim of nature? To find clues for answering these questions scientists perform what are called loss-of-function analyses. They knock out (silence) the gene of interest in living cells or whole organisms and subsequently look for any changes in the cells’ metabolism, physiology or behavior in order to find out whether specific cellular functions are lost.
“However, what was still missing was a method for selectively silencing those genes that do not code for proteins,” said Dr. Sven Diederichs, who is head of a Junior Research Group at DKFZ and at the Institute of Pathology of Heidelberg University. With his team, the molecular biologist has now developed a new method for selectively silencing such non-protein-coding genes and, thus, determining their function. “In many cancers we find that specific non- coding genes are particularly active. Therefore, we want to understand what the RNA molecules transcribed from these genes bring about in the tumor cells.”
Diederichs and his team have based their method on the use of zinc finger nucleases. These are engineered protein molecules that cut DNA at precisely defined sites and thus facilitate specific targeting and cutting of genes. Although the cell’s repair machinery will re-connect the two ends after the cutting process, silencing works well for protein-coding genes. The repair enzymes usually do not repair the site precisely and insert small defects. This destroys the protein information so that the proteins can no longer be formed.
Men, boomers fuel growth in spa industry
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The spa industry is booming, particularly in China and India, as more men and aging boomers seek pain relief as well as relaxing and luxury treatments, including $1,250 facials.
Massage is still the most popular request, but people with deep pockets can opt for pricier treatments such as the ultra-expensive facial from New York skincare expert Dangene, who is booked months in advance.
Treatments ranging from plasma therapy, in which a patient’s platelet-rich plasma is extracted from their blood and injected into wrinkles, and infrared saunas to oxygen therapy and salt rooms are also giving a boost to the $250 billion industry.
Aid poised to flow as fog of war lifts in Tripoli
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Humanitarian aid workers said on Tuesday a rapid resolution to the Libyan conflict would help them bring urgent help to the residents of Tripoli, where medicine and fuel supplies have run low and many foreigners have fled.
Any prolongation of the conflict in Tripoli could be disastrous, since the civilian population faces much greater risks from continued fighting than they have during the past six months of a slowly tightening siege.
Gaddafi’s four decades of absolute power appeared over on Tuesday as rebels burst into his compound in Tripoli after a fierce battle with a loyalist rearguard.
Conference Explores Gender’s Role in Cardiovascular Disease
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Heart disease has sometimes been considered a men’s health issue, but the statistics prove otherwise. In the US alone, more than 42 million women live with the problem. Heart disease is responsible for more than one-third of deaths among American women each year, making it the number one killer of females older than 20. What’s more, the signs of heart attack in women differ from those in men, tending toward vomiting, throat discomfort, anxiety and a feeling of pressure in the chest as opposed to the crushing, right-side chest pain more often reported in men. Indeed, the physiology of heart disease differs between men and women in ways that scientists have only begun to understand.
Experts will present the latest research about these differences at the Physiology of Cardiovascular Disease: Gender Disparities conference, October 12–14, 2011 at the University of Mississippi in Jackson. The conference, sponsored by the American Physiological Society with additional support from the American Heart Association, will coincide with the grand opening of the Women’s Health Research Center at the university’s medical center. Presentations will cover gender differences in heart disease, vascular function, kidney disease and metabolism as well as provide insight on how perimenopause and menopause affect women’s heart health.
New process that may save lives of cancer patients is effective and significantly less costly
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People who are at risk for a certain form of colon and other types of cancer may soon have a better chance at surviving or even avoiding the diseases, thanks to a new study done by the Intermountain Clinical Genetics Institute at LDS Hospital.
The Intermountain Heathcare group of scientists used sophisticated computer modeling to develop a reliable and cost-effective way to identify patients who may have Lynch syndrome, an inherited cancer syndrome that occurs in people who carry a genetic mutation in one of the DNA mismatch repair genes. The mismatch repair (MMR) genes usually help to repair DNA damage that happens to all of us as a part of daily life. But patients who have genetic mutations in these genes have a substantially increased risk of developing colon, uterine, pancreatic and urologic cancers. For some patients, the lifetime risk approaches 80 percent.
“Being able to identify people who carry a gene change is profoundly important because earlier and more frequent screening - not just for colon cancer, but also for other cancers — could save their lives. It could also save the lives of relatives who have no idea that they may share the increased risk for cancer,” says Marc S. Williams, MD, director of the Clinical Genetics Institute at LDS Hospital, and a member of the team that conducted the study, which is published in the August edition of the American Journal of Managed Care.
Risk of autism among younger siblings of a child with autism much greater than previously reported
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Autism Speaks, the world’s largest autism science and advocacy organization, joined in announcing significant findings from the largest known study of younger siblings of children who had a verified diagnosis of autism spectrum disorder (ASD). This study, based on data from the Autism Speaks High Risk Baby Siblings Research Consortium (BSRC) and led by investigators from the UC Davis MIND Institute, was published online today in the journal Pediatrics and will appear in the September issue.
The “Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study” found that 19 percent of younger siblings of children with ASD developed autism, a rate significantly higher than the general population. If there were two children with ASD in the family, the risk of the third sibling developing ASD increased to more than 32 percent. The study found that the risk of an ASD diagnosis for male infants who had an older sibling with ASD was almost three times greater than the risk for female infants (26 percent compared to 9 percent). The study did not find any increase in risk associated with the gender of the older sibling, severity of the older sibling’s symptoms, or other parent characteristics such as parental age, socio-economic status or race/ethnicity.
“By pulling together data from many investigators who are studying infant siblings of children with autism, these results offer a more accurate estimate of the recurrence rate for autism in siblings,” says Autism Speaks Chief Science Officer Geraldine Dawson, Ph.D. “Surprisingly, the rate is much higher than previous estimates. This points to the important need for closely monitoring and screening siblings so that they can be offered intervention as early as possible to ensure the best possible outcome.”
Slowing the allergic march
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A pandemic of ailments called the “allergic march”—the gradual acquisition of overlapping allergic diseases that commonly begins in early childhood—has frustrated both parents and physicians. For the last three decades, an explosion of eczema, food allergies, hay fever, and asthma have afflicted children in the United States, the European Union, and many other countries.
What causes the march and how to derail it has remained elusive. Now, in this week’s Nature, David Artis, PhD, an associate professor of Microbiology at the Perelman School of Medicine at the University of Pennsylvania, and a team of collaborating international scientists, identified that expression of the protein TSLP may influence susceptibility to multiple allergic diseases by regulating the maturation of basophils, an uncommon type of white blood cell. Specifically, TSLP elicits the maturation of a population of distinct basophils that promotes allergic inflammation.
“A fundamental question regarding the allergic march is if a child has eczema, for example, which is associated with TSLP production in skin cells, why would some of those children subsequently be more susceptible to other allergic diseases at different sites of the body such as the gut or the lung?” asks Artis. “Although we have known that TSLP is associated with allergic diseases for many years, how this biological messenger might influence multiple allergic diseases has been a puzzle.”
